NESCAV syndrome

Term ID

DOID:0070039

Synonyms

• autosomal dominant intellectual disability 9
• autosomal dominant mental retardation 9
• autosomal dominant non-syndromic intellectual disability 9
• MRD9
• NESCAVS
• neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment

Definition

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3. https://www.ncbi.nlm.nih.gov/pubmed/21376300

References

• MIM:614255
• NCI:C133742
• UMLS_CUI:C3280283

Ontology

Human Disease   ( DOID:0070039 )